Variant report

Variant	rs538459916
Chromosome Location	chr1:45740798-45740799
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45739797..45741370-chr1:45746426..45748499,2	K562	blood:
2	chr1:45483055..45484838-chr1:45740397..45743390,2	K562	blood:
3	chr1:45739847..45742419-chr1:45763606..45766458,2	K562	blood:
4	chr1:45735576..45737147-chr1:45740278..45742078,2	K562	blood:
5	chr1:45739886..45742264-chr1:45977045..45978670,2	K562	blood:
6	chr1:45731206..45733732-chr1:45740746..45742362,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
4	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv3406025	chr1:45739908-45763848	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45732400-45748000	Weak transcription	Right Atrium	heart
2	chr1:45733400-45740800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:45738400-45741800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:45739400-45740800	Weak transcription	HUVEC	blood vessel
5	chr1:45739400-45741800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:45739600-45740800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:45739800-45741000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:45740000-45741000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:45740200-45741400	Enhancers	Brain Substantia Nigra	brain
10	chr1:45740200-45741600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:45740200-45741800	Enhancers	HepG2	liver
12	chr1:45740400-45740800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr1:45740400-45740800	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr1:45740400-45741000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:45740400-45741000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:45740400-45741000	Enhancers	Brain Angular Gyrus	brain
17	chr1:45740600-45740800	Enhancers	K562	blood
18	chr1:45740600-45741000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:45740600-45741000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:45740600-45741000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:45740600-45741000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:45740600-45741000	Enhancers	Brain Anterior Caudate	brain
23	chr1:45740600-45741000	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr1:45740600-45741000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr1:45740600-45741000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr1:45740600-45741000	Enhancers	Stomach Mucosa	stomach
27	chr1:45740600-45741000	Enhancers	Hela-S3	cervix
28	chr1:45740600-45741200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:45740600-45741800	Enhancers	H1 Cell Line	embryonic stem cell

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